title: A Brazilian galactosialidosis patient given renal transplantation: a case report.
abstract: We report a Brazilian girl who was diagnosed as having galactosialidosis (deficiency of protective protein/cathepsin A; PPCA deficiency; GS) at the age of 2 years 6 months during an extensive investigation for renal failure. She was found to have low levels of both β-galactosidase and α-neuraminidase in fibroblasts and to be a carrier of two novel mutations in the PPGB gene (p.G57V and p.R396W). She received a renal allograft at the age of 3 years 4 months. Transplantation was successful and graft function remains excellent after 6 years. However, the patient shows signs of progression of her primary disease. To our knowledge, she is the first GS patient to be given renal transplantation worldwide. We propose that renal transplantation should be considered as a therapeutic option for the treatment of severe renal complications of GS.
authors.affiliation: Clinical Genetics, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), and Complexo Hospitalar Santa Casa de Porto Alegre (CHSCPA), Porto Alegre, Brazil.
authors.forename: A
authors.initials: A
authors.lastname: Kiss
authors.forename: P R G
authors.initials: PR
authors.lastname: Zen
authors.forename: V
authors.initials: V
authors.lastname: Bittencourt
authors.forename: G A
authors.initials: GA
authors.lastname: Paskulin
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
authors.forename: A
authors.initials: A
authors.lastname: d'Azzo
authors.forename: I V
authors.initials: IV
authors.lastname: Schwartz
mesh_terms: D001938:Brazil; D043402:Cathepsin A / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D006085:Graft Survival; D006801:Humans; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation / Q000009:adverse effects; D019520:Living Donors; D016464:Lysosomal Storage Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D013997:Time Factors; D016896:Treatment Outcome
chemical_list: C468629:CTSA protein, human; D043402:Cathepsin A